ClinVar for MedGen (Select 934713) - ClinVar - NCBI

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Items: 9

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 1675095	NM_001261826.3(AP3D1):c.2601+6G>T	AP3D1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 10 +1 more	GUncertain significance
Select item 1507429	NM_001261826.3(AP3D1):c.3493T>G (p.Cys1165Gly)	AP3D1 (C1103G +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GUncertain significance
Select item 1497556	NM_001261826.3(AP3D1):c.2001+6C>T	AP3D1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 10 +1 more	GUncertain significance
Select item 1440018	NM_001261826.3(AP3D1):c.3637G>A (p.Ala1213Thr)	AP3D1 (A1201T +2 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 10 +1 more	GUncertain significance
Select item 1099332	NM_001261826.3(AP3D1):c.3233A>G (p.Lys1078Arg)	AP3D1 (K1016R +2 more)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 10 +1 more	GConflicting classifications of pathogenicity
Select item 988866	NM_001261826.3(AP3D1):c.1363G>A (p.Ala455Thr)	AP3D1 (A455T)	Single nucleotide variant (missense variant)	Hermansky-Pudlak syndrome 10 +2 more	GUncertain significance
Select item 737118	NM_001261826.3(AP3D1):c.2832G>A (p.Glu944=)	AP3D1	Single nucleotide variant (synonymous variant)	not provided +1 more	GLikely benign
Select item 724796	NM_001261826.3(AP3D1):c.463-4G>A	AP3D1	Single nucleotide variant (intron variant)	Hermansky-Pudlak syndrome 10 +1 more	GBenign/Likely benign
Select item 253144	NM_001261826.3(AP3D1):c.3565_3566del (p.Val1189fs)	AP3D1 (V1127fs +1 more)	Deletion (frameshift variant)	Hermansky-Pudlak syndrome 10	GPathogenic